Published in Clin Dysmorphol on July 01, 2004
Histone deacetylases (HDACs): characterization of the classical HDAC family. Biochem J (2003) 11.27
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
Integrated genomics identifies five medulloblastoma subtypes with distinct genetic profiles, pathway signatures and clinicopathological features. PLoS One (2008) 5.86
Medical assessment of adverse health outcomes in long-term survivors of childhood cancer. JAMA (2007) 5.74
Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. Nature (2012) 4.53
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Clinical heart failure in a cohort of children treated with anthracyclines: a long-term follow-up study. Eur J Cancer (2006) 2.99
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34
LIN28B induces neuroblastoma and enhances MYCN levels via let-7 suppression. Nat Genet (2012) 1.96
Cardiac function in 5-year survivors of childhood cancer: a long-term follow-up study. Arch Intern Med (2010) 1.87
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet (2010) 1.86
High incidence of malformation syndromes in a series of 1,073 children with cancer. Am J Med Genet A (2005) 1.85
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A (2008) 1.78
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat (2010) 1.67
Inactivation of CDK2 is synthetically lethal to MYCN over-expressing cancer cells. Proc Natl Acad Sci U S A (2009) 1.66
Pharmacogenomic prediction of anthracycline-induced cardiotoxicity in children. J Clin Oncol (2011) 1.62
The face signature of fibrodysplasia ossificans progressiva. Am J Med Genet A (2012) 1.62
Detecting minimal residual disease in neuroblastoma: the superiority of a panel of real-time quantitative PCR markers. Clin Chem (2009) 1.62
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet (2009) 1.59
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol (2012) 1.56
High risk of symptomatic cardiac events in childhood cancer survivors. J Clin Oncol (2012) 1.53
Cyclin D1 and CDK4 activity contribute to the undifferentiated phenotype in neuroblastoma. Cancer Res (2008) 1.50
A worldwide collaboration to harmonize guidelines for the long-term follow-up of childhood and young adult cancer survivors: a report from the International Late Effects of Childhood Cancer Guideline Harmonization Group. Pediatr Blood Cancer (2012) 1.49
Mutation update for the PORCN gene. Hum Mutat (2011) 1.37
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet (2012) 1.34
Cardioprotective interventions for cancer patients receiving anthracyclines. Cochrane Database Syst Rev (2011) 1.31
Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet (2006) 1.30
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol (2009) 1.29
Different dosage schedules for reducing cardiotoxicity in cancer patients receiving anthracycline chemotherapy. Cochrane Database Syst Rev (2009) 1.28
Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol (2008) 1.27
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet (2007) 1.23
Prognostic factors for progression of childhood optic pathway glioma: a systematic review. Eur J Cancer (2006) 1.22
Rearrangements and increased expression of cyclin D1 (CCND1) in neuroblastoma. Genes Chromosomes Cancer (2003) 1.21
Different anthracycline derivates for reducing cardiotoxicity in cancer patients. Cochrane Database Syst Rev (2010) 1.20
Prevalence and patterns of morphological abnormalities in patients with childhood cancer. JAMA (2008) 1.18
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet (2010) 1.18
Iodine-131-metaiodobenzylguanidine as initial induction therapy in stage 4 neuroblastoma patients over 1 year of age. Eur J Cancer (2008) 1.18
Direct regulation of the minichromosome maintenance complex by MYCN in neuroblastoma. Eur J Cancer (2007) 1.15
High delta-like 1 expression in a subset of neuroblastoma cell lines corresponds to a differentiated chromaffin cell type. Int J Cancer (2003) 1.11
A biology-driven approach identifies the hypoxia gene signature as a predictor of the outcome of neuroblastoma patients. Mol Cancer (2010) 1.10
Prevalence of rib anomalies in normal Caucasian children and childhood cancer patients. Eur J Med Genet (2005) 1.09
Fenretinide induces mitochondrial ROS and inhibits the mitochondrial respiratory chain in neuroblastoma. Cell Mol Life Sci (2009) 1.09
Pulmonary function impairment measured by pulmonary function tests in long-term survivors of childhood cancer. Thorax (2011) 1.08
Development of a real-time polymerase chain reaction assay for prediction of the uptake of meta-[(131)I]iodobenzylguanidine by neuroblastoma tumors. Clin Cancer Res (2003) 1.08
Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity. Hum Mutat (2011) 1.08
Prevalence and risk factors of radiation-induced growth hormone deficiency in childhood cancer survivors: a systematic review. Cancer Treat Rev (2009) 1.05
PHOX2B is a novel and specific marker for minimal residual disease testing in neuroblastoma. J Clin Oncol (2008) 1.05
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet (2014) 1.03
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet (2011) 1.02
Anthracycline cardiotoxicity in children. N Engl J Med (2004) 1.01
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet (2012) 1.01
Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C Semin Med Genet (2014) 1.01
Longitudinal assessment of health-related quality of life in preschool children with non-CNS cancer after the end of successful treatment. Pediatr Blood Cancer (2008) 0.97
Copy number defects of G1-cell cycle genes in neuroblastoma are frequent and correlate with high expression of E2F target genes and a poor prognosis. Genes Chromosomes Cancer (2011) 0.96
Knockdown of survivin (BIRC5) causes apoptosis in neuroblastoma via mitotic catastrophe. Endocr Relat Cancer (2011) 0.95
Morphological features in children with autism spectrum disorders: a matched case-control study. J Autism Dev Disord (2011) 0.95
High-dose chemotherapy and autologous haematopoietic stem cell rescue for children with high-risk neuroblastoma. Cochrane Database Syst Rev (2013) 0.95
Gene expression profiling in response to the histone deacetylase inhibitor BL1521 in neuroblastoma. Exp Cell Res (2005) 0.94
Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature. Am J Med Genet A (2011) 0.93
Different anthracycline derivates for reducing cardiotoxicity in cancer patients. Cochrane Database Syst Rev (2010) 0.93
Genotype-phenotype correlation in patients suspected of having Sotos syndrome. Horm Res (2004) 0.93
Histone deacetylase inhibitor BL1521 induces a G1-phase arrest in neuroblastoma cells through altered expression of cell cycle proteins. FEBS Lett (2005) 0.92
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia. Am J Med Genet A (2003) 0.92
Body integrity identity disorder. PLoS One (2012) 0.91
Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet (2011) 0.91
Nutritional status at admission of children with cancer in Malawi. Pediatr Blood Cancer (2008) 0.90
Targeted BIRC5 silencing using YM155 causes cell death in neuroblastoma cells with low ABCB1 expression. Eur J Cancer (2011) 0.90
Mannose-binding lectin (MBL) substitution: recovery of opsonic function in vivo lags behind MBL serum levels. J Immunol (2009) 0.89
Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature. Eur J Pediatr (2008) 0.89
The N-myc and c-myc downstream pathways include the chromosome 17q genes nm23-H1 and nm23-H2. Oncogene (2002) 0.88
Evaluation of late adverse events in long-term wilms' tumor survivors. Int J Radiat Oncol Biol Phys (2010) 0.88
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet (2014) 0.88
The face in congenital melanocytic nevus syndrome. Am J Med Genet A (2012) 0.88
Treatment including anthracyclines versus treatment not including anthracyclines for childhood cancer. Cochrane Database Syst Rev (2011) 0.87
Should anthracyclines and dexrazoxane be used for children with cancer? Lancet Oncol (2011) 0.87
Surveillance of hepatic late adverse effects in a large cohort of long-term survivors of childhood cancer: prevalence and risk factors. Eur J Cancer (2012) 0.87
Clinical heart failure during pregnancy and delivery in a cohort of female childhood cancer survivors treated with anthracyclines. Eur J Cancer (2006) 0.87
Anthracycline-induced cardiotoxicity: comparison of recommendations for monitoring cardiac function during therapy in paediatric oncology trials. Eur J Cancer (2006) 0.87
Malnutrition and neutropenia in children treated for Burkitt lymphoma in Malawi. Pediatr Blood Cancer (2009) 0.87
The novel histone deacetylase inhibitor BL1521 inhibits proliferation and induces apoptosis in neuroblastoma cells. Biochem Pharmacol (2004) 0.86
Psychosocial indicators of health-related quality of life in children with cancer 2 months after end of successful treatment. J Pediatr Hematol Oncol (2007) 0.86
High-dose chemotherapy and autologous haematopoietic stem cell rescue for children with high-risk neuroblastoma. Cochrane Database Syst Rev (2010) 0.86
Coping and family functioning predict longitudinal psychological adaptation of siblings of childhood cancer patients. J Pediatr Psychol (2004) 0.86
Identification of BIRC6 as a novel intervention target for neuroblastoma therapy. BMC Cancer (2012) 0.86
Renal malformations associated with mutations of developmental genes: messages from the clinic. Pediatr Nephrol (2010) 0.86
Acute malnutrition is common in Malawian patients with a Wilms tumour: A role for peanut butter. Pediatr Blood Cancer (2009) 0.86
Etiology of non-immune hydrops fetalis: An update. Am J Med Genet A (2015) 0.85
Dose-effect relationships for adverse events after cranial radiation therapy in long-term childhood cancer survivors. Int J Radiat Oncol Biol Phys (2012) 0.85
Cyclopentenyl cytosine-induced activation of deoxycytidine kinase increases gemcitabine anabolism and cytotoxicity in neuroblastoma. Cancer Chemother Pharmacol (2005) 0.85
Glomerular function time trends in long-term survivors of childhood cancer: a longitudinal study. Cancer Epidemiol Biomarkers Prev (2013) 0.84
Course of life of survivors of childhood cancer is related to quality of life in young adulthood. J Psychosoc Oncol (2007) 0.84
Health-related quality of life in children and emotional reactions of parents following completion of cancer treatment. Pediatr Blood Cancer (2006) 0.84
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A (2012) 0.84
Stability of PCR targets for monitoring minimal residual disease in neuroblastoma. J Mol Diagn (2012) 0.83
Malnourished Malawian patients presenting with large Wilms tumours have a decreased vincristine clearance rate. Eur J Cancer (2010) 0.83
Evaluation of a patient information website for childhood cancer survivors. Support Care Cancer (2012) 0.83
Safety and pharmacokinetics of plasma-derived mannose-binding lectin (MBL) substitution in children with chemotherapy-induced neutropaenia. Eur J Cancer (2008) 0.83